Q9NNX1 (TUFT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Tuftelin

Gene names

Name:

TUFT1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	390 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Involved in the mineralization and structural organization of enamel.
Subunit structure	Interacts with TFIP11 By similarity.
Subcellular location	Secreted By similarity. Note: Secreted at a very early stage of enamel formation, concentrated at the dentin-enamel junction and tightly bound to the surface of the growing crystallites By similarity.
Sequence similarities	Belongs to the tuftelin family.
Sequence caution	The sequence BAB15615.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Biomineralization
Cellular component	Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	bone mineralization Non-traceable author statement PubMed 12489194. Source: UniProtKB odontogenesis Non-traceable author statement PubMed 12489194. Source: UniProtKB
Cellular_component	cytoplasm Inferred from direct assay. Source: LIFEdb extracellular region Non-traceable author statement PubMed 12489194. Source: UniProtKB
Molecular_function	structural constituent of tooth enamel Non-traceable author statement PubMed 12489194. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NNX1-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9NNX1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     21-45: Missing.

Isoform 3 (identifier: Q9NNX1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     21-79: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 390	390	Tuftelin		PRO_0000183186
Regions
	Coiled coil	88 – 126	39	Potential
	Coiled coil	162 – 351	190	Potential
Natural variations
	Alternative sequence	21 – 79	59	Missing in isoform 3.		VSP_006686
	Alternative sequence	21 – 45	25	Missing in isoform 2.		VSP_006685
	Natural variant	18	1	Q → R. Corresponds to variant rs3828054 [ dbSNP | Ensembl ].		VAR_052424
	Natural variant	296	1	K → R. Corresponds to variant rs16833395 [ dbSNP | Ensembl ].		VAR_034574
Experimental info
	Sequence conflict	244	1	Q → R in BAB15615. Ref.3
	Sequence conflict	329	1	K → T in BAB15615. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: 332AF3C06665E8D0	FASTA	390	44,264
	10 20 30 40 50 60 MNGTRNWCTL VDVHPEDQAA GSVDILRLTL QGELTGDELE HIAQKAGRKT YAMVSSHSAG 70 80 90 100 110 120 HSLASELVES HDGHEEIIKV YLKGRSGDKM IHEKNINQLK SEVQYIQEAR NCLQKLREDI 130 140 150 160 170 180 SSKLDRNLGD SLHRQEIQVV LEKPNGFSQS PTALYSSPPE VDTCINEDVE SLRKTVQDLL 190 200 210 220 230 240 AKLQEAKRQH QSDCVAFEVT LSRYQREAEQ SNVALQREED RVEQKEAEVG ELQRRLLGME 250 260 270 280 290 300 TEHQALLAKV REGEVALEEL RSNNADCQAE REKAATLEKE VAGLREKIHH LDDMLKSQQR 310 320 330 340 350 360 KVRQMIEQLQ NSKAVIQSKD ATIQELKEKI AYLEAENLEM HDRMEHLIEK QISHGNFSTQ 370 380 390 ARAKTENPGS IRISKPPSPK PMPVIRVVET
	Isoform 2 [UniParc]. Checksum: 3A12985BF4AC3033	FASTA	365	41,546
	10 20 30 40 50 60 MNGTRNWCTL VDVHPEDQAA AGRKTYAMVS SHSAGHSLAS ELVESHDGHE EIIKVYLKGR 70 80 90 100 110 120 SGDKMIHEKN INQLKSEVQY IQEARNCLQK LREDISSKLD RNLGDSLHRQ EIQVVLEKPN 130 140 150 160 170 180 GFSQSPTALY SSPPEVDTCI NEDVESLRKT VQDLLAKLQE AKRQHQSDCV AFEVTLSRYQ 190 200 210 220 230 240 REAEQSNVAL QREEDRVEQK EAEVGELQRR LLGMETEHQA LLAKVREGEV ALEELRSNNA 250 260 270 280 290 300 DCQAEREKAA TLEKEVAGLR EKIHHLDDML KSQQRKVRQM IEQLQNSKAV IQSKDATIQE 310 320 330 340 350 360 LKEKIAYLEA ENLEMHDRME HLIEKQISHG NFSTQARAKT ENPGSIRISK PPSPKPMPVI RVVET
	Isoform 3 [UniParc]. Checksum: 9F858A5CE5FBB30A	FASTA	331	37,929
	10 20 30 40 50 60 MNGTRNWCTL VDVHPEDQAA VYLKGRSGDK MIHEKNINQL KSEVQYIQEA RNCLQKLRED 70 80 90 100 110 120 ISSKLDRNLG DSLHRQEIQV VLEKPNGFSQ SPTALYSSPP EVDTCINEDV ESLRKTVQDL 130 140 150 160 170 180 LAKLQEAKRQ HQSDCVAFEV TLSRYQREAE QSNVALQREE DRVEQKEAEV GELQRRLLGM 190 200 210 220 230 240 ETEHQALLAK VREGEVALEE LRSNNADCQA EREKAATLEK EVAGLREKIH HLDDMLKSQQ 250 260 270 280 290 300 RKVRQMIEQL QNSKAVIQSK DATIQELKEK IAYLEAENLE MHDRMEHLIE KQISHGNFST 310 320 330 QARAKTENPG SIRISKPPSP KPMPVIRVVE T

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The human tuftelin gene: cloning and characterization." Mao Z., Shay B., Hekmati M., Fermon E., Taylor A., Dafni L., Heikinheimo K., Lustmann J., Fisher L.W., Young M.F., Deutsch D. Gene 279:181-196(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 2 AND 3).
[2]	"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A. Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Uterus.
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Hepatoma and Tongue.
[4]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Kidney and Placenta.
[7]	"Mapping of the human tuftelin (TUFT1) gene to chromosome 1 by fluorescence in situ hybridization." Deutsch D., Palmon A., Young M.F., Selig S., Kearns W.G., Fisher L.W. Mamm. Genome 5:461-462(1994) [PubMed] [Europe PMC] [Abstract] Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF254860 , AF254850, AF254851, AF254852, AF254854, AF254855, AF254856, AF254857, AF254858, AF254859 Genomic DNA. Translation: AAF78914.1. AF254260 mRNA. Translation: AAF78913.1. AL136917 mRNA. Translation: CAB66851.1. AK026989 mRNA. Translation: BAB15615.1. Different initiation. AK075001 mRNA. Translation: BAC11346.1. AK315414 mRNA. Translation: BAG37804.1. AL365436 Genomic DNA. Translation: CAI16591.1. AL365436 Genomic DNA. Translation: CAI16592.1. CH471121 Genomic DNA. Translation: EAW53429.1. CH471121 Genomic DNA. Translation: EAW53430.1. CH471121 Genomic DNA. Translation: EAW53431.1. CH471121 Genomic DNA. Translation: EAW53433.1. BC002933 mRNA. Translation: AAH02933.1. BC008301 mRNA. Translation: AAH08301.1.
IPI	IPI00024497. IPI00218511. IPI00218512.
RefSeq	NP_001119809.1. NM_001126337.1. NP_064512.1. NM_020127.2.
UniGene	Hs.489922.
3D structure databases
ProteinModelPortal	Q9NNX1.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NNX1. 3 interactions.
STRING	9606.ENSP00000357842.
PTM databases
PhosphoSite	Q9NNX1.
Polymorphism databases
DMDM	22096213.
Proteomic databases
PaxDb	Q9NNX1.
PRIDE	Q9NNX1.
Protocols and materials databases
DNASU	7286.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000353024; ENSP00000343781; ENSG00000143367. ENST00000368848; ENSP00000357841; ENSG00000143367. ENST00000368849; ENSP00000357842; ENSG00000143367.
GeneID	7286.
KEGG	hsa:7286.
UCSC	uc001eyl.3. human. uc001eym.3. human.
Organism-specific databases
CTD	7286.
GeneCards	GC01P151513.
HGNC	HGNC:12422. TUFT1.
HPA	HPA028112.
MIM	600087. gene.
neXtProt	NX_Q9NNX1.
PharmGKB	PA37084.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG40140.
HOVERGEN	HBG056992.
InParanoid	Q9NNX1.
OrthoDB	EOG4TB4C5.
PhylomeDB	Q9NNX1.
Gene expression databases
ArrayExpress	Q9NNX1.
Bgee	Q9NNX1.
CleanEx	HS_TUFT1.
Genevestigator	Q9NNX1.
GermOnline	ENSG00000143367. Homo sapiens.
Family and domain databases
InterPro	IPR024846. Tuftelin. [Graphical view]
PANTHER	PTHR23156. PTHR23156. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	TUFT1. human.
GenomeRNAi	7286.
NextBio	28487.
SOURCE	Search...

Entry information

Entry name

TUFT1_HUMAN

Accession

Primary (citable) accession number: Q9NNX1
Secondary accession number(s): B2RD57 , D3DV21, D3DV22, Q5T384, Q5T385, Q9BU28, Q9H5L1

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 2, 2002
Last sequence update:	October 1, 2000
Last modified:	April 3, 2013
This is version 96 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.